A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354193



Internal ID14854457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29806130..29900075hg38UCSC Ensembl
Innerchr6:29806180..29900025hg38UCSC Ensembl
Outerchr6:29806080..29900125hg38UCSC Ensembl
chr6:29773907..29867852hg19UCSC Ensembl
Innerchr6:29773957..29867802hg19UCSC Ensembl
Outerchr6:29773857..29867902hg19UCSC Ensembl
chr6:29881886..29975831hg18UCSC Ensembl
Innerchr6:29881936..29975781hg18UCSC Ensembl
Outerchr6:29881836..29975881hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3893946
hg1993946
hg1893946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3468e59
Supporting Variantsessv8741243
SamplesNA19240
Known GenesHLA-G, HLA-H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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